| 제목 |
Successfully Managed Respiratory Insufficiency in a Patient with BMPER Gene Mutation : A Case Report |
| 소속 |
Pusan National University Hospital, Department of Rehabilitation Medicine1, Seoul National University, Department of Biomedical Sciences, College of Medicine2 |
| 저자 |
Ho Eun Park1*, Ji Won Hong1, Youngha Lee2, Jin A Yoon1, Yong Beom Shin1† |
Introduction
Diaphanospondylodysostosis (DSD) is an extremely rare and fatal disease that can occur as a phenotype of the BMPER gene mutation. We report a patient diagnosed with DSD and describe a successful management of respiratory insufficiency by chest retraction through non-invasive ventilator (NIV).
Case Report
The female patient was born at 40 weeks with a birth weight of 2600g by Cesarean section. Since birth, she revealed several abnormal morphologies (Fig. 1). Brain and spinal magnetic resonance image, electrodiagnostic study, creatinine phosphokinase, a chromosome study, GDF and SMN gene test were performed, but no significant abnormal findings were found.
During the follow-up visit to our clinic, the patient complained of mild respiratory distress that occurred when she was 12 years old. Pulmonary function test showed a pattern of restrictive lung disease due to thoracic deformity and encouraged air stacking exercise with bag valve mask. From the age of 14, she used NIV only at night with concern of hypoventilation during sleep.
At the age of 15 years, she suffered from upper respiratory infection and visited the emergency room with dyspnea. Arterial blood gas analysis showed marked carbon dioxide retention upto 73 mmHg of arterial partial pressure of carbone dioxide (pCO2). According to history taking, she had not been able to apply the NIV for the past month because of poor compliance. With appropriate adjustment of NIV, PCO2 was lowered to 48 mmHg within one week of hospitalization and she discharged to home on the 9th day, maintaining NIV application at night.
We suspected DSD in this patient with respiratory insufficiency, and other characteristic morphologic features including axial skeletal anomaly and diagnosed by confirming BMPER mutation through Sanger sequencing (Figure 2, 3, Table 1, 2).
Discussion
DSD is a rare, fatal disease with little known disease progression or prognosis. According to previous reports, long term progression of DSD is affected by renal function due to renal disease, and we suggest the possibility that respiratory insufficiency due to chest deformity may also affect the course of the disease. Therefore, we recommend early pulmonary rehabilitation for chest expansion and NIV training to improve quality of life, reduce hospital stay, delay disease progression.
In patients with DSD, axial skeletal development is abnormal, whereas appendicular skeletal development is relatively normal. In this case, however, symmetrical muscle wasting was observed in the both upper and lower extremities. This may be due to the extremely rare reports of DSD and the possibility that the life span of the patient was so short that we could not fully see the course of the disease.
Future research is needed to determine the role of pulmonary rehabilitation as a disease modifying therapy for DSD patients and to determine whether the decline in muscle wasting in extremities is present. |
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Figure 1. Characteristic morphologic features (A) Short neck and stature, protruded abdomen, bell shaped thorax (B) Three dimensional computer tomography (CT) of whole spine shows multiple anamaly at spine and sacrum; Fusion of C2/3, C4/5 vertebra; C5, C6, C7 butterfly vertebra; C1, C5, C6, T8 dysraphism; Hypogenesis of sacrum (C) Severe scoliosis of Cobb angle of 62 degrees, lung hypoplasia, decreased number of ribs, downward tilt of ishchiopubic rami
Figure 2. Family pedigree and Sanger sequencing traces confirming the compound heterozygous variants in BMPER gene.
Figure 3. Pathogenic variants in BMPER. Schematic representation of the domain structure of BMPER and depiction of known pathogenic variants from ClinVar database (Funari et al., 2010) and novel variants (in red) from patient.
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